How we support your fight against cancer

Personalized cancer treatment has been the major source of success in the recent years of cancer therapy, which required a change in the fundamental perception of cancer: defining it as a genetic disease and identifying the main genetic variants responsible for its formation and evolution.

The identification of more and more mutations that play an important role in tumor development, the so-called “driver mutations”, led to the emergence of more and more therapies  for tumors with specific mutational landscapes. While there are already several targeted medications available, more and more clinical trials and studies are running to further expand the therapeutic possibilities.

To identify the actionable mutations in a tumor, first DNA should be isolated. DNA may be isolated either directly from a tumor sample or, due to recent advances in technology, from blood plasma. Subsequently, a so-called sequencing library should be prepared with the selective enrichment of DNA regions of interest and attachment of the proper DNA sequences compatible with Next-Generation Sequencing technologies.

The next step is the identification of the proper nucleotide sequences of the target regions, by identifying each nucleic acid in the DNA templates.

After the identification of the nucleotide sequences, bioinformatics analysis should take place where algorithms find the alterations in sample DNA sequences that differ from the reference human genome.

After identification, the most important task is to give each alteration a useful meaning. First, each variant is categorized as pathologic (bad), probably pathologic, probably benign, benign (good) or as a variant with unknown significance (uncertain). The characterization is based on the scientific literature and databases. In our system, we check each variant for therapeutic consequence or a recruitment to a running medical study. These may guide an oncologist in finding the most appropriate medication for each individual case.